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Diseases of metabolism
Stable Identifier
R-HSA-5668914
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
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Metabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as the inactivation and elimination of toxic ones generated endogenously or present in the extracellular environment. Mutations that disrupt these processes by inactivating a required enzyme or regulatory protein, or more rarely by changing its specificity can lead to severe diseases. Metabolic diseases annotated here involve aspects of carbohydrate, glycosylation, amino acid (phenylketonuria), surfactant and vitamin metabolism, and biological oxidations. One somatic mutation that affects cytosolic isocitrate metabolism, often found in glioblastomas and some lymphoid neoplasms, is also annotated. Also described are mutated forms of adrenocorticotropic hormone (ACTH) that can lead to obesity, resulting in excessive accumulation of body fat.
Participants
Events
Diseases of carbohydrate metabolism
(Homo sapiens)
Phenylketonuria
(Homo sapiens)
Defects in vitamin and cofactor metabolism
(Homo sapiens)
Metabolic disorders of biological oxidation enzymes
(Homo sapiens)
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
(Homo sapiens)
Diseases associated with surfactant metabolism
(Homo sapiens)
Diseases of glycosylation
(Homo sapiens)
Defective ACTH causes obesity and POMCD
(Homo sapiens)
Diseases of nucleotide metabolism
(Homo sapiens)
Diseases of mitochondrial beta oxidation
(Homo sapiens)
Diseases of branched-chain amino acid catabolism
(Homo sapiens)
Participates
as an event of
Disease (Homo sapiens)
Disease
Name
Identifier
Synonyms
disease of metabolism
DOID:0014667
metabolic disease
Reviewed
D'Eustachio, P (2024-08-18)
Created
D'Eustachio, P (2015-01-29)
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